Charcot-Marie-Tooth Disease Type 1ACMT-TOOLSNCT02596191
Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
A study testing Clinical evaluation, electrophysiological record and Muscle MRI in people with Charcot-Marie-Tooth Disease Type 1A, run by Assistance Publique Hopitaux De Marseille at 2 sites in France.
Trial summary
This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progression and to provide validated measurement tools that can be used as… Read more about this study
- Who is it for?
- Ages 18 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease Type 1A
- What is being tested?
- Clinical evaluation, electrophysiological record and Muscle MRI
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 80 participants
- Where
- 2 sitesFrance
- Study dates
- 6 Jun 2016to 5 May 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 70 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Patients with CMT 1A disease
- Diagnosis of CMT 1A confirmed by genotyping (duplication of the 17p11.2 region)
Who cannot join
- Patients suffering from co-morbidity at the origin of peripheral neuropathy (diabetes, hypothyroidism, renal insufficiency, drugs...) or muscle, articular, rheumatological disease
- With HIV or cancer
- With a significant progressive disease in the previous month
- With a contra-indication for MRI
- With a dislocation, fracture, or recent surgery (less than 6 months before inclusion)
- with alcohol or psychoactive substances abuse
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- Treated by an anti-inflammatory drug over the past four weeks
- Pregnant or breastfeeding women
- Homeless patients
Trial locations and contacts
2 sites in 1 country.
France2 sites
Assistance Publique Hôpitaux de Marseille
Marseille, 13010
CHU Gui de Chauliac, CHU MONTPELLIER
Montpellier, 34285
About this study
This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progression and to provide validated measurement tools that can be used as outcome measures in future clinical trials.
- Conditions
- Charcot-Marie-Tooth Disease Type 1A
- Being tested
- Clinical evaluation, electrophysiological record, Muscle MRI, blood samples analysis
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Clinical evaluationOther
electrophysiological recordOther
Muscle MRIOther
blood samples analysisOther
| Study group | Role | What they receive |
|---|---|---|
| patients with mild CMT 1A disease | Experimental | Charcot-Marie-Tooth Neuropathy Score between 1 and 10 Receives: Other: Clinical evaluation; Other: electrophysiological record; Other: Muscle MRI; Other: blood samples analysis |
| patients with moderate CMT 1A disease | Experimental | Charcot-Marie-Tooth Neuropathy Score between 11 and 20 Receives: Other: Clinical evaluation; Other: electrophysiological record; Other: Muscle MRI; Other: blood samples analysis |
| patients with severe CMT 1A disease | Experimental | Charcot-Marie-Tooth Neuropathy Score ≥21 Receives: Other: Clinical evaluation; Other: electrophysiological record; Other: Muscle MRI; Other: blood samples analysis |
| control group | Other | Healthy volunteers Receives: Other: Muscle MRI; Other: blood samples analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change of functional scores
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS)
Measured: 3 months, 12 months and 24 months
Change of functional scores
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS)
Measured: 3 months, 12 months and 24 months
Change of functional scores
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS2)
Measured: 3 months, 12 months and 24 months
Change of functional scores at
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (ONLS)
Measured: 3 months, 12 months and 24 months
Secondary outcomes (1)
Walkin test
Use of connected soles for walking test (Digitsole)
Measured: 12 months and 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 2015 (estimated)
- Study start6 Jun 2016
- Primary completion5 May 2027 (estimated)
- Study completion5 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth Disease Type 1AStudies of the same condition, open and under way.
- More trials run by Assistance Publique Hopitaux De MarseilleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Urielle Desalbres, Study director, Assistance Publique Hôpitaux de Marseille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02596191
- Sponsor's protocol ID
- 2014-10
- Acronym
- CMT-TOOLS
- Status last verified
- Oct 2026
- First submitted
- 30 Oct 2015
- Last updated
- 29 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
- ClinicalTrials.gov ID
- NCT02596191
- Acronym / sponsor ID
- CMT-TOOLS / 2014-10
- Conditions
- Charcot-Marie-Tooth Disease Type 1A
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Assistance Publique Hopitaux De MarseilleUniversity, hospital or other
- Study start
- 6 Jun 2016 (actual)
- Primary completion
- 5 May 2027 (estimated)
- Study completion
- 5 May 2027 (estimated)
- First posted
- 4 Nov 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progression and to provide validated measurement tools that can be used as outcome measures in future clinical trials.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| patients with mild CMT 1A disease | Experimental | Other: Clinical evaluation, Other: electrophysiological record, Other: Muscle MRI, Other: blood samples analysisCharcot-Marie-Tooth Neuropathy Score between 1 and 10 |
| patients with moderate CMT 1A disease | Experimental | Other: Clinical evaluation, Other: electrophysiological record, Other: Muscle MRI, Other: blood samples analysisCharcot-Marie-Tooth Neuropathy Score between 11 and 20 |
| patients with severe CMT 1A disease | Experimental | Other: Clinical evaluation, Other: electrophysiological record, Other: Muscle MRI, Other: blood samples analysisCharcot-Marie-Tooth Neuropathy Score ≥21 |
| control group | Other | Other: Muscle MRI, Other: blood samples analysisHealthy volunteers |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Patients with CMT 1A disease
- Diagnosis of CMT 1A confirmed by genotyping (duplication of the 17p11.2 region)
Key exclusion criteria (9 listed)
- Patients suffering from co-morbidity at the origin of peripheral neuropathy (diabetes, hypothyroidism, renal insufficiency, drugs...) or muscle, articular, rheumatological disease
- With HIV or cancer
- With a significant progressive disease in the previous month
- With a contra-indication for MRI
- With a dislocation, fracture, or recent surgery (less than 6 months before inclusion)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Clinical evaluation | Other | patients with mild CMT 1A disease, patients with moderate CMT 1A disease, patients with severe CMT 1A disease |
| electrophysiological record | Other | patients with mild CMT 1A disease, patients with moderate CMT 1A disease, patients with severe CMT 1A disease |
| Muscle MRI | Other | control group, patients with mild CMT 1A disease, patients with moderate CMT 1A disease, patients with severe CMT 1A disease |
| blood samples analysis | Other | control group, patients with mild CMT 1A disease, patients with moderate CMT 1A disease, patients with severe CMT 1A disease |
Primary outcome
Change of functional scores
Time frame: 3 months, 12 months and 24 months
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS)
Change of functional scores
Time frame: 3 months, 12 months and 24 months
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS)
Change of functional scores
Time frame: 3 months, 12 months and 24 months
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS2)
Change of functional scores at
Time frame: 3 months, 12 months and 24 months
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (ONLS)
1 secondary outcome
Walkin test
Time frame: 12 months and 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Urielle Desalbres study director
Assistance Publique Hôpitaux de Marseille
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Clinical evaluation, electrophysiological record and Muscle MRI in people with Charcot-Marie-Tooth Disease Type 1A, run by Assistance Publique Hopitaux De Marseille at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change of functional scores (time frame: 3 months, 12 months and 24 months). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.